Linked Data
dbSNP Id:
rs548602803
ExAC:
4:81207512 C / T
gnomAD v2:
4-81207512-C-T
gnomAD v3:
4-80286358-C-T
gnomAD v4:
4-80286358-C-T
COSMIC:
COSM481569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286358C>T , CM000666.2:g.80286358C>T | GRCh38 |
| NC_000004.11:g.81207512C>T , CM000666.1:g.81207512C>T | GRCh37 |
| NC_000004.10:g.81426536C>T | NCBI36 |
| NG_029501.1:g.24771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.493C>T MANE Select | ENSP00000311697.7:p.Arg165Cys | |
| ENST00000312465.11:c.493C>T | ENSP00000311697.7:p.Arg165Cys | |
| ENST00000456523.3:c.*17C>T | ENSP00000398353.3:n.*17C>T | |
| ENST00000503413.1:n.442C>T | ||
| ENST00000507780.1:c.342+11346C>T | ENSP00000423903.1:n.342+11346C>T | |
| NM_001291812.1:c.64C>T | NP_001278741.1:p.Arg22Cys | |
| NM_004464.3:c.493C>T | NP_004455.2:p.Arg165Cys | |
| NM_033143.2:c.*17C>T | NP_149134.1:n.*17C>T | |
| NM_001291812.2:c.64C>T | NP_001278741.1:p.Arg22Cys | |
| NM_004464.4:c.493C>T MANE Select | NP_004455.2:p.Arg165Cys |